OFD1 and Joubert syndrome: Analysis of exome sequence data for variants in genes associated with Joubert syndrome revealed NM_003611.2: c.2656del, a maternally inherited hemizygous mutation in OFD1. Sanger sequencing confirmed the variant in the proband and mother (UDP-3331 and UDP-4786, respectively; Fig. 1b) and refined the diagnosis to JBTS10.